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Journal Abstract Search

93 related items for PubMed ID: 7316479

  • 1. Complementation analysis of human sialidase deficiency using natural substrates.
    Swallow DM, Hoogeveen AT, Verheijen FW, Galjaard H.
    Ann Hum Genet; 1981 May; 45(2):105-12. PubMed ID: 7316479
    [Abstract] [Full Text] [Related]

  • 2. Electrophoretic analysis of glycoprotein enzymes in the sialidoses and mucolipidoses.
    Swallow DM, O'Brien JS, Hoogeveen AT, Buck DW.
    Ann Hum Genet; 1981 Feb; 45(1):29-37. PubMed ID: 6459053
    [Abstract] [Full Text] [Related]

  • 3. Human beta-galactosidase and alpha-neuraminidase deficient mucolipidosis: genetic complementation analysis of the neuraminidase deficiency.
    Mueller OT, Shows TB.
    Hum Genet; 1982 Feb; 60(2):158-62. PubMed ID: 7076257
    [Abstract] [Full Text] [Related]

  • 4. Sialidosis and galactosialidosis: chromosomal assignment of two genes associated with neuraminidase-deficiency disorders.
    Mueller OT, Henry WM, Haley LL, Byers MG, Eddy RL, Shows TB.
    Proc Natl Acad Sci U S A; 1986 Mar; 83(6):1817-21. PubMed ID: 3081902
    [Abstract] [Full Text] [Related]

  • 5. Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobility of some enzymes known to be glycoproteins. II. Enzymes studies.
    Swallow DM, Evans L, Stewart G, Thomas PK, Abrams JD.
    Ann Hum Genet; 1979 Jul; 43(1):27-35. PubMed ID: 496393
    [Abstract] [Full Text] [Related]

  • 6. Genetic heterogeneity of I-cell disease is demonstrated by complementation of lysosomal enzyme processing mutants.
    Shows TB, Mueller OT, Honey NK, Wright CE, Miller AL.
    Am J Med Genet; 1982 Jul; 12(3):343-53. PubMed ID: 6287841
    [Abstract] [Full Text] [Related]

  • 7. Adult GM1 gangliosidosis: clinical and biochemical studies on two patients and comparison to other patients called variant or adult GM1 gangliosidosis.
    Wenger DA, Sattler M, Mueller OT, Myers GG, Schneiman RS, Nixon GW.
    Clin Genet; 1980 May; 17(5):323-34. PubMed ID: 6777095
    [Abstract] [Full Text] [Related]

  • 8. Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis.
    Mueller OT, Honey NK, Little LE, Miller AL, Shows TB.
    J Clin Invest; 1983 Sep; 72(3):1016-23. PubMed ID: 6309902
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  • 12. Molecular mechanism of lysosomal sialidase deficiency in galactosialidosis involves its rapid degradation.
    Vinogradova MV, Michaud L, Mezentsev AV, Lukong KE, El-Alfy M, Morales CR, Potier M, Pshezhetsky AV.
    Biochem J; 1998 Mar 01; 330 ( Pt 2)(Pt 2):641-50. PubMed ID: 9480870
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  • 13. Evidence for two genetic complementation groups in pyruvate carboxylase-deficient human fibroblast cell lines.
    Feldman GL, Wolf B.
    Biochem Genet; 1980 Jun 01; 18(5-6):617-24. PubMed ID: 6776949
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  • 14. Sialidosis type 2 (acid neuraminidase deficiency): clinical and biochemical features of a further case.
    Winter RM, Swallow DM, Baraitser M, Purkiss P.
    Clin Genet; 1980 Sep 01; 18(3):203-10. PubMed ID: 6777097
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  • 15. Biochemical characterization of propionyl CoA carboxylase deficiency: heterogeneity within a single genetic complementation group.
    McKeon C, Eanes RZ, Wolf B.
    Biochem Genet; 1982 Feb 01; 20(1-2):77-94. PubMed ID: 7092804
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  • 16. Partial deficiency of glycoprotein neuraminidase in some patients with Morquio disease type A.
    Glössl J, Kresse H, Mendla K, Cantz M, Rosenkranz W.
    Pediatr Res; 1984 Mar 01; 18(3):302-5. PubMed ID: 6427747
    [Abstract] [Full Text] [Related]

  • 17. Cloning of the cDNA and gene encoding mouse lysosomal sialidase and correction of sialidase deficiency in human sialidosis and mouse SM/J fibroblasts.
    Igdoura SA, Gafuik C, Mertineit C, Saberi F, Pshezhetsky AV, Potier M, Trasler JM, Gravel RA.
    Hum Mol Genet; 1998 Jan 01; 7(1):115-21. PubMed ID: 9384611
    [Abstract] [Full Text] [Related]

  • 18. Studies on the structural basis of the heterogeneity of human prostatic and seminal acid phosphatases.
    Taga EM, Moore DL, Van Etten RL.
    Prostate; 1983 Jan 01; 4(2):141-50. PubMed ID: 6835865
    [Abstract] [Full Text] [Related]

  • 19. Complementation, cross correction, and drug correction studies of combined beta-galactosidase neuraminidase deficiency in human fibroblasts.
    Strisciuglio P, Creek KE, Sly WS.
    Pediatr Res; 1984 Feb 01; 18(2):167-71. PubMed ID: 6422434
    [Abstract] [Full Text] [Related]

  • 20. Isoelectric-focusing behavior of acid hydrolases in rat kidney lysosomes. Effects of the pH gradient, autolysis and neuraminidase.
    Needleman SB, Koenig H.
    Biochim Biophys Acta; 1975 Jan 30; 379(1):43-56. PubMed ID: 234755
    [Abstract] [Full Text] [Related]

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